Dermoscopy as a Noninvasive Diagnostic Tool for Hailey-Hailey Disease and Darier Disease.

INTRODUCTION: Hailey-Hailey disease (HHD) and Darier disease (DD) are rare genetic disorders for which differential diagnosis, especially in less obvious cases, can be difficult. The diagnosis is based on the clinical picture and family history, and is confirmed by histopathologic examination. Dermoscopy is a noninvasive technique that is primarily used at the present time to diagnose skin cancers. However, in the past few years this technique has also been increasingly used as a noninvasive diagnostic tool of inflammatory skin diseases. The aim of the study was to evaluate whether dermoscopy is a useful noninvasive diagnostic tool for HHD and DD. METHODS: We performed an observational retrospective case series study involving 13 patients with HHD (n = 8) and DD (n = 5). The presence or absence of standardized dermoscopic features of inflammatory diseases (according to International Dermoscopy Society [IDS] guidelines) was assessed in these patients. RESULTS: The most distinctive feature of HHD was white clouds separated by pink furrows, visible in all cases (8/8; 100.0%). Another distinctive clue of HHD was the crumbled fabric pattern seen in six patients with HHD (6/8; 75.0%). These dermoscopic findings were not present in patients with DD. The most typical features of DD in the dermoscopic examination was star-like or oval-shaped yellow areas surrounded by whitish halo, visible in all patients (5/5; 100.0%). Another distinctive dermoscopic clue of DD was pinkish homogeneous structureless background, which was present in all patients (5/5, 100.0%). These latter two features were not observed in patients with HHD. CONCLUSION: Dermoscopy reveals distinctive features of HHD and DD, respectively. Therefore, we conclude that dermoscopy can be an excellent complementary noninvasive tool in the diagnostic process of patients with HHD and DD.

Hailey-Hailey disease and Darier disease are rare genetic disorders, which are diagnosed based on the clinical picture and confirmed with skin biopsy. Dermoscopy is noninvasive diagnostic tool, which enables skin visualization at a 10-fold magnification. Currently, dermoscopy is mainly used to diagnose skin cancers. In the recent years, dermoscopy has been also increasingly used as a noninvasive diagnostic tool of inflammatory skin diseases. The aim of the study was to assess whether demoscopy may be a useful tool in diagnosing Hailey-Hailey disease and Darier disease. The study included thirteen patients: eight with Hailey-Hailey disease and five with Darier disease. The most typical dermoscopic feature of Hailey-Hailey disease was white clouds separated by pink furrows, which were visible in all cases. Another distinctive clue was crumbled fabric pattern seen in 75.0% of patients with Hailey-Hailey disease. These dermoscopic findings were not present in patients with Darier disease. In dermoscopic examination the most typical feature of Darier disease was star-like or oval-shaped yellow areas surrounded by whitish halo, visible in all patients. Also, pinkish homogeneous structureless background was present in all patients with Darier disease. These features were not observed in patients with Hailey-Hailey disease. Dermoscopy reveals characteristic features of Hailey-Hailey disease and Darier disease. Therefore, it can be an excellent complementary tool in the diagnostic process of patients with those diseases.

Ocular involvement in autoimmune bullous diseases.

Autoimmune bullous diseases represent a heterogenous group of disorders caused by autoantibodies against adhesion molecules; the location of the target protein determines the level of cleft formation. The spectrum of ocular lesions in autoimmune bullous diseases can range from mild symptoms to severe involvement with sight impairment and even, in some cases, blindness. In pemphigus vulgaris, the prevalence of ocular involvement has been reported to be between 7% and 26%. The most common clinical sign of ocular pemphigus vulgaris is bilateral conjunctivitis with hyperemia. Ocular involvement also occurs in 41% to 70% of patients with paraneoplastic pemphigus. The main ocular manifestations are bilateral cicatrizing conjunctivitis with symblepharon formation, and shortening of the fornices. In mucous membrane pemphigoid, ocular involvement is seen in 61% to 70% of patients; the most frequent ocular finding is cicatricial conjunctivitis. Patients with autoimmune bullous diseases having common ocular involvement should be assessed by an ophthalmologist to avoid serious complications. Diagnostic procedures and treatment require multidisciplinary care based on the close cooperation between dermatologists and ophthalmologists.

Features of classic lichen planopilaris and frontal fibrosing alopecia in reflectance confocal microscopy: A preliminary study.

BACKGROUND: Classic lichen planopilaris (LPP) and frontal fibrosing alopecia (FFA) are primary lymphocytic cicatricial alopecia. In patients with ambiguous clinical presentation, reflectance confocal microscopy (RCM) a new noninvasive skin imaging technique, could be a helpful diagnostic tool. The aim of our study was to describe the characteristic features of classic LPP and FFA using RCM. MATERIALS AND METHODS: Ten patients with classic lichen planopilaris and two with frontal fibrosing alopecia were examined with RCM. RESULTS: Lichenoid inflammatory infiltrate around the hair follicle was observed in three cases of classic LPP and FFA (3/12; 25.0%). Extensive perifollicular fibrosis was seen in nine patients (9/12; 75.0%) with classic LPP and FFA. An increased number of white, ill-defined, coarse dermal fibers at the level of the superficial dermis were visible in seven cases (7/12; 58.3%). Moreover, dilated blood vessels were present in seven patients with classic LPP and FFA (7/12; 58.3%). CONCLUSION: Summing up, reflectance confocal microscopy allows to visualize major key diagnostic features of classic lichen planopilaris and frontal fibrosing alopecia in the real time. The value of RCM examination in scarring alopecia needs to be further evaluated, but it appears to be a useful adjuvant tool for the initial diagnosis of classic LPP and FFA.

Trichoscopy findings in loose anagen hair syndrome: rectangular granular structures and solitary yellow dots.

BACKGROUND: Loose anagen hair syndrome (LAHS) is typically diagnosed in girls older than 2 years who present with hair that "will not grow". Hair microscopic examination shows absent inner and outer root sheaths, ruffling of the cuticle on the proximal hair shaft and deformed pigmented anagen bulbs. OBJECTIVE: The aim of the study was to assess whether there are characteristic trichoscopic features favoring the diagnosis of LAHS. PATIENTS AND METHODS: Eighty nine children patients were included into the study (24 girls with LAHS, 25 with alopecia areata, 20 with telogen effluvium and 20 healthy children). In all groups trichoscopy was performed. Trichoscopy images were analyzed for abnormalities in the hairs shafts, the hair follicle openings and the interfollicular area. RESULTS: Dirty dots were present in all groups. A unique feature of LAHS was the presence of rectangular black granular structures which differs from dense black dots seen in patients with alopecia areata. This feature was observed in 71% of patients with LAHS. Follicular units with single hairs constituted 92,9% of hair units in these patients (65,5% in telogen effluvium and 53% in the control group). Solitary yellow dots were found in 50% of patient with LAHS and in 24% of patients with alopecia areata, but was not found in control group or in patients with telogen effluvium. CONCLUSION: The trichoscopy features favoring the diagnosis of LAHS are: rectangular black granular structures, solitary yellow dots and major predominance of follicular units with single hairs.

The value of trichoscopy in the differential diagnosis of scalp lesions in pemphigus vulgaris and pemphigus foliaceus

BACKGROUND: Trichoscopy is becoming increasingly popular in diagnosing hair and scalp diseases. Scalp involvement in pemphigus is common. The scalp may be the first or only site of clinical manifestation of the disease. OBJECTIVE: The aim of this study was to analyze whether trichoscopy may be useful in aiding differential diagnosis of scalp lesions in patients with pemphigus vulgaris and pemphigus foliaceus. METHODS: Trichoscopy was performed in 19 patients with scalp lesions in the course of pemphigus (9 patients with pemphigus vulgaris and 10 with pemphigus foliaceus). In all patients, the diagnosis of scalp pemphigus was confirmed by histopathology. The working magnification was 20-fold and 70-fold. RESULTS: The most frequently observed trichoscopy features of pemphigus lesions were: extravasations (18/19; 94.7%) and yellow hemorrhagic crusts (11/19; 57.9%). Yellow dots with whitish halo were observed in 6/19 (31.6%) patients with pemphigus. White polygonal structures were observed in pemphigus foliaceus (6/10; 60%), but not in pemphigus vulgaris. Vascular abnormalities were more frequent in pemphigus vulgaris, when compared to pemphigus foliaceus, and were associated with a severe course of disease. Linear serpentine vessels were the most frequent vascular abnormality in patients with pemphigus vulgaris and pemphigus foliaceus (77.8% and 30%, respectively). CONCLUSION: Trichoscopy may serve as a useful supplementary method in the differential diagnosis of pemphigus, especially in cases of desquamative or exudative lesions limited to the scalp. Extravasations, yellow hemorrhagic crusts, yellow dots with whitish halo, white polygonal structures and linear serpentine vessels are trichoscopy features which may suggest the diagnosis of pemphigus. .

The value of trichoscopy in the differential diagnosis of scalp lesions in pemphigus vulgaris and pemphigus foliaceus.

BACKGROUND: Trichoscopy is becoming increasingly popular in diagnosing hair and scalp diseases. Scalp involvement in pemphigus is common. The scalp may be the first or only site of clinical manifestation of the disease. OBJECTIVE: The aim of this study was to analyze whether trichoscopy may be useful in aiding differential diagnosis of scalp lesions in patients with pemphigus vulgaris and pemphigus foliaceus. METHODS: Trichoscopy was performed in 19 patients with scalp lesions in the course of pemphigus (9 patients with pemphigus vulgaris and 10 with pemphigus foliaceus). In all patients, the diagnosis of scalp pemphigus was confirmed by histopathology. The working magnification was 20-fold and 70-fold. RESULTS: The most frequently observed trichoscopy features of pemphigus lesions were: extravasations (18/19; 94.7%) and yellow hemorrhagic crusts (11/19; 57.9%). Yellow dots with whitish halo were observed in 6/19 (31.6%) patients with pemphigus. White polygonal structures were observed in pemphigus foliaceus (6/10; 60%), but not in pemphigus vulgaris. Vascular abnormalities were more frequent in pemphigus vulgaris, when compared to pemphigus foliaceus, and were associated with a severe course of disease. Linear serpentine vessels were the most frequent vascular abnormality in patients with pemphigus vulgaris and pemphigus foliaceus (77.8% and 30%, respectively). CONCLUSION: Trichoscopy may serve as a useful supplementary method in the differential diagnosis of pemphigus, especially in cases of desquamative or exudative lesions limited to the scalp. Extravasations, yellow hemorrhagic crusts, yellow dots with whitish halo, white polygonal structures and linear serpentine vessels are trichoscopy features which may suggest the diagnosis of pemphigus.

Criteria for diagnosing pemphigus vulgaris and pemphigus foliaceus by reflectance confocal microscopy.

BACKGROUND: Pemphigus is an autoimmune, bullous disease affecting the skin and mucous membranes. The aim of the study was to evaluate whether pemphigus vulgaris (PV) and pemphigus foliaceus (PF), may be diagnosed using reflectance confocal microscopy (RCM). METHODS: Thirty patients (18 with PV and 12 with PF) were included into the study. In total, 36 PV lesions and 29 PF lesions were examined. Healthy-appearing skin adjacent to skin lesions and not adjacent to skin lesions was also investigated. RESULTS: Intraepidermal clefts (bullae) with acantholytic cells were observed in 47% of PV lesions and 59% of PF lesions. Multiple dilated blood vessels in the upper dermis were observed using RCM in 61% of PV lesions and in 86% of PF lesions. RCM features of pemphigus also included presence of inflammatory infiltrates, loss of typical honeycomb pattern of the epidermis, and detachment of the outer root sheath in hair follicles. In 20-64% of cases, RCM features, which are characteristic for PV and PF lesions were also observed in the proximity of these lesions within the healthy-appearing skin. Following criteria for RCM diagnosis of pemphigus were developed: (i) acantholytic clefts in RCM of a lesion, (ii) acantholytic clefts in RCM of healthy-appearing skin adjacent to a lesion, (iii) multiple-dilated blood vessels in RCM of a lesion. Fulfillment of two of these three criteria is sufficient to establish a RCM diagnosis of pemphigus. These criteria do not differentiate between PV and PF. CONCLUSIONS: RCM is useful for rapid, non-invasive, in-office differential diagnosis of pemphigus. RCM does not replace immunologic and histopathologic examinations, which remain the gold standard for establishing the final diagnosis of PV and PF.

New interleukin-23 pathway inhibitors in dermatology: ustekinumab, briakinumab, and secukinumab.

Interleukin (IL)-23 is an important regulator of T helper-17 lymphocytes, which influence the cutaneous immune system by production of IL-17 and several other proinflammatory cytokines. This pathway has been recently linked to the pathogenesis of psoriasis and numerous other skin diseases. A newly developed biologic drug, ustekinumab (CNTO-1275), which targets the p40 subunit of IL-12 and IL-23, was approved by the US FDA and the European Medicines Agency in 2009 for the treatment of moderate to severe psoriasis. Administered as subcutaneous injections of 45 mg at weeks 0 and 4, and then every 12 weeks, ustekinumab produces a 75% improvement in the Psoriasis Area and Severity Index (PASI) in 66.4-75.7% of patients and a Dermatology Life Quality Index (DLQI) score of 0 or 1 in 55-56% of patients after 12 weeks of therapy. A recent clinical trial also indicates the possible efficacy of ustekinumab in psoriatic arthritis. The proportion of patients who had at least one adverse event through 12 weeks in clinical studies was 51.6-57.6% in the ustekinumab group and 50.4% in the placebo group. Serious adverse events were observed in 1.4-1.6% of patients treated with ustekinumab and in 1.4% of patients receiving placebo. Injection-site reactions occurred in 1-2% of patients and 5% of patients developed anti-ustekinumab antibodies. Further studies are needed to evaluate the long-term efficacy and safety of ustekinumab. Another biologic drug that targets the same molecules, briakinumab (ABT-874), has recently had its approval application withdrawn in the US and Europe to conduct further analysis and clinical trials. The company plans resubmission at a later date. Other IL-23 pathway inhibitors in the pipeline include anti-p19 monoclonal antibody and apilimod (STA-5326), which interfere with IL-23 activity, as well as secukinumab (AIN-457), LY-2439821, and AMG-827, which exhibit their activity at other targets of the IL-23 pathway.